Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? - Wikidata - wikimedia - TriplyDB

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

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Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function.

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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

http://www.wikidata.org/entity/Q56320834

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wetenschappelijk artikel

@nl

наукова стаття, опублікована у вересні 2012

@uk

name

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@en

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@nl

type

label

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@en

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@nl

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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@en

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@nl

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Genetics in Medicine

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Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

@en

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Alan Shanske

http://www.w3.org/2001/XMLSchema#string

Barbara Frederick

http://www.w3.org/2001/XMLSchema#string

Beth A Pletcher

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Brynn Levy

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James Tepperberg

http://www.w3.org/2001/XMLSchema#string

Kurt Hirschhorn

http://www.w3.org/2001/XMLSchema#string

Leena Ala-Kokko

http://www.w3.org/2001/XMLSchema#string

Odelia Nahum

http://www.w3.org/2001/XMLSchema#string

Peter Papenhausen

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Peter Warburton

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P2860

IQGAP1 modulates activation of B-Raf

IGF1R variants associated with isolated single suture craniosynostosis

Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection.

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions.

Chromosomal dynamics of human neocentromere formation.

Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution

Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.

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811-8

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scholarly article

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10.1038/GIM.2012.54

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9

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14

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2012-09-01T00:00:00Z

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22653535

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